Linked Data
gnomAD v4:
20-46011143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011143T>C , CM000682.2:g.46011143T>C | GRCh38 |
| NC_000020.10:g.44639782T>C , CM000682.1:g.44639782T>C | GRCh37 |
| NC_000020.9:g.44073189T>C | NCBI36 |
| NG_011468.1:g.7236T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.650T>C MANE Select | ENSP00000361405.3:p.Val217Ala | |
| NM_004994.2:c.650T>C | NP_004985.2:p.Val217Ala | |
| NM_004994.3:c.650T>C MANE Select | NP_004985.2:p.Val217Ala |